Newborn screening in fabry disease: What can be achieved with early diagnosis?

Clinical Therapeutics

Volumn 30, Issue SUPPL. 2, 2008, Pages

  Bodamer, Olaf A ^a  

^a Univ Hosp Child Adol N   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GALACTOSIDASE;

ARTICLE; BONE MARROW TRANSPLANTATION; COMPARATIVE STUDY; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME REPLACEMENT; FABRY DISEASE; FEMALE; FLUOROMETRY; FOLLOW UP; GENOTYPE; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; NEWBORN; NEWBORN SCREENING; PILOT STUDY; SENSITIVITY AND SPECIFICITY; SEX DIFFERENCE; TANDEM MASS SPECTROMETRY;

BIOLOGICAL MARKERS; FABRY DISEASE; HUMANS; INFANT, NEWBORN; LYSOSOMAL STORAGE DISEASES; NEONATAL SCREENING; TANDEM MASS SPECTROMETRY;

EID: 41449085196     PISSN: 01492918     EISSN: 1879114X     Source Type: Journal    
DOI: 10.1016/S0149-2918(08)80035-5     Document Type: Article

References (1)

1. Spada M., Pagliardini S., Yasuda M., et al. High incidence of later-onset Fabry disease revealed by newborn screening. Am J Hum Genet 79 (2006) 31-40